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Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… for  notable accomplishments : Involve use of patients’ genomic variant information in clinical decision making. … to generate or study. Category Information Content Genomic Medicine Resource Genomic medicine educational …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… meeting  eMERGE & CSER: The Convergence of Genomics and Medicine  at the Bethesda Hyatt in Bethesda, Maryland, on … to develop best practices for the implementation of genomic sequence data into clinical care, as well as research … biorepositories with electronic medical record systems for genomic discovery and genomic medicine implementation …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they … volunteers whose genomes were examined, about 100 had genomic variants predicting that they would have a rare … Dr. Biesecker is upbeat about the future of genomic medicine. "These results show that you can dramatically …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… Robb Rowley, M.D. … Dr. Robb Rowley is an Internal Medicine Physician and is the Program Director for the … genetic research in support of implementing genomic medicine. Prior to starting at NHGRI, he spent … and Genomics. During this time, he established genomic policy and conducted genomic research for the United …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… associated with engaging the public about genomics and genomic medicine. Her efforts will also include working with the … base needs to be established for implementation of genomic medicine, and this includes documenting, …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… The Clinical Center Genomics Opportunity promotes precision medicine and spurs the development of infrastructure to … capabilities within their Institutes to effectively use genomic data in clinical research and clinical care. The NIH … with a vision that this will evolve toward comprehensive genomic evaluations in the future. To initiate this program, …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… is a faculty member at Case Western University School of Medicine; this grant is part of the NIH Ethical, Legal, and … using population descriptors as a proxy to describe human genomic variation. These descriptors have reflected … individuals’ nationality, geography, and ethnicity, but genomic variation is complex and fails to track accurately to …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is provided … to newborn screening: Acquisition and analysis of genomic datasets that expand considerably the scale of data … Events … Program Staff … The Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) program explores the …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… last year of high school, I decided to pursue a career in medicine because I found it challenging and stimulating and … that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical signs and symptoms. The … patient came to our clinic, we found their disease-causing genomic variant and looked for other patients with the same …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… The University of Alabama at Birmingham Heersink School of Medicine   Our Genetic Testing Service is in the design … to implement recommendations of GMXIV meeting regarding genomic medicine consultation: Create a consult service or … held a follow-up working group consultation after the 14th Genomic Medicine meeting,  Genomic Medicine XIV: Genomic …